메뉴 건너뛰기




Volumn 35, Issue 3, 2012, Pages 599-602

Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

Author keywords

Ashkenazi Jews; BRCA1; BRCA2; Breast cancer; Mutation

Indexed keywords

ARTICLE; BRAZIL; FAMILY HISTORY; FEMALE; GENE DELETION; GENE INSERTION; GENETIC DRIFT; HETEROZYGOTE; HUMAN; JEW; MEDICAL HISTORY; NEOPLASM; ONCOGENE; POPULATION DISPERSION; PREVALENCE; TUMOR SUPPRESSOR GENE;

EID: 84865362254     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572012000400009     Document Type: Article
Times cited : (22)

References (25)
  • 1
    • 0031035359 scopus 로고    scopus 로고
    • The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women
    • Abeliovich D, Kaduri L, Lerer I, Weinberg N, Gail A, Sagi M, Zlotogora J, Heching N and Peretz T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60:505-514.
    • (1997) Am J Hum Genet , vol.60 , pp. 505-514
    • Abeliovich, D.1    Kaduri, L.2    Lerer, I.3    Weinberg, N.4    Gail, A.5    Sagi, M.6    Zlotogora, J.7    Heching, N.8    Peretz, T.9
  • 2
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 72:1117-1130.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.P.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5    Hopper, J.L.6    Loman, N.7    Olsson, H.8    Johannsson, O.9    Borg, A.10
  • 3
    • 37849030476 scopus 로고    scopus 로고
    • Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: The national Israeli study of ovarian cancer
    • Chetrit A, Hirsh-Yechezkel G, Ben-David Y, Lubin F, Friedman E and Sadetzki S (2008) Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: The national Israeli study of ovarian cancer. J Clin Oncol 26:20-25.
    • (2008) J Clin Oncol , vol.26 , pp. 20-25
    • Chetrit, A.1    Hirsh-Yechezkel, G.2    Ben-David, Y.3    Lubin, F.4    Friedman, E.5    Sadetzki, S.6
  • 4
    • 0026092912 scopus 로고
    • Genetic analysis of breast cancer in the cancer and steroid hormone study
    • Claus EB, Risch N and ThompsonWD(1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48:232-242.
    • (1991) Am J Hum Genet , vol.48 , pp. 232-242
    • Claus, E.B.1    Risch, N.2    Thompson, W.D.3
  • 5
    • 0032477349 scopus 로고    scopus 로고
    • Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history
    • Claus EB, Schildkraut J, Iversen ES, Berry D and Parmigiani G (1998) Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. J Natl Cancer Inst 90:1824-1829.
    • (1998) J Natl Cancer Inst , vol.90 , pp. 1824-1829
    • Claus, E.B.1    Schildkraut, J.2    Iversen, E.S.3    Berry, D.4    Parmigiani, G.5
  • 6
    • 0028843102 scopus 로고
    • Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • Easton DF, Ford D and Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:265-271.
    • (1995) Am J Hum Genet , vol.56 , pp. 265-271
    • Easton, D.F.1    Ford, D.2    Bishop, D.T.3
  • 10
    • 0032946943 scopus 로고    scopus 로고
    • Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer
    • Hodgson SV, Heap E, Cameron J, Ellis D, Mathew CG, Eeles RA, Solomon E and Lewis CM (1999) Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer. J Med Genet 36:369-373.
    • (1999) J Med Genet , vol.36 , pp. 369-373
    • Hodgson, S.V.1    Heap, E.2    Cameron, J.3    Ellis, D.4    Mathew, C.G.5    Eeles, R.A.6    Solomon, E.7    Lewis, C.M.8
  • 11
    • 7044272596 scopus 로고    scopus 로고
    • The breast cancer family registry: An infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    • John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N et al. (2004) The breast cancer family registry: An infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res 6:375-389.
    • (2004) Breast Cancer Res , vol.6 , pp. 375-389
    • John, E.M.1    Hopper, J.L.2    Beck, J.C.3    Knight, J.A.4    Neuhausen, S.L.5    Senie, R.T.6    Ziogas, A.7    Andrulis, I.L.8    Anton-Culver, H.9    Boyd, N.10
  • 12
    • 59449090970 scopus 로고    scopus 로고
    • Absence of founder BRCA1 and BRCA2 mutations in cutaneous malignant melanoma patients of Ashkenazi origin
    • Kadouri L, Temper M, Grenader T, Abeliovich D, Hamburger T, Peretz T and Lotem M (2009) Absence of founder BRCA1 and BRCA2 mutations in cutaneous malignant melanoma patients of Ashkenazi origin. Fam Cancer 8:29-32.
    • (2009) Fam Cancer , vol.8 , pp. 29-32
    • Kadouri, L.1    Temper, M.2    Grenader, T.3    Abeliovich, D.4    Hamburger, T.5    Peretz, T.6    Lotem, M.7
  • 13
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH and Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 15
    • 16944363862 scopus 로고    scopus 로고
    • Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families
    • Levy-Lahad E, Catane R, Eisenberg S, Kaufman B, Hornreich G, Lishinsky E, Shohat M, Weber BL, Beller U, Lahad A et al. (1997) Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet 60:1059-1067.
    • (1997) Am J Hum Genet , vol.60 , pp. 1059-1067
    • Levy-Lahad, E.1    Catane, R.2    Eisenberg, S.3    Kaufman, B.4    Hornreich, G.5    Lishinsky, E.6    Shohat, M.7    Weber, B.L.8    Beller, U.9    Lahad, A.10
  • 16
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from nucleated cell
    • Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from nucleated cell. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 20
    • 0037385394 scopus 로고    scopus 로고
    • Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
    • Risch N, Tang H, Katzenstein H and Ekstein J (2003) Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet 72:812-822.
    • (2003) Am J Hum Genet , vol.72 , pp. 812-822
    • Risch, N.1    Tang, H.2    Katzenstein, H.3    Ekstein, J.4
  • 21
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi jewish population frequencies for common mutations in BRCA1 and BRCA2
    • Roa BB, Boyd AA and Richards CS (1996) Ashkenazi jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185-187.
    • (1996) Nat Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Richards, C.S.3
  • 22
    • 0031012211 scopus 로고    scopus 로고
    • Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis
    • Rohlfs EM, Learning WG, Friedman KJ, Couch FJ, Weber BL and Silverman LM (1997) Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. Clin Chemistry 43:24-29.
    • (1997) Clin Chemistry , vol.43 , pp. 24-29
    • Rohlfs, E.M.1    Learning, W.G.2    Friedman, K.J.3    Couch, F.J.4    Weber, B.L.5    Silverman, L.M.6
  • 23
    • 0030902559 scopus 로고    scopus 로고
    • BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2
    • Schubert EL, Lee MK, Mefford HC, Argonza RH, Morrow JE, Hull J, Dann JL and King MC (1997) BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. Am J Hum Genet 60:1031-1040.
    • (1997) Am J Hum Genet , vol.60 , pp. 1031-1040
    • Schubert, E.L.1    Lee, M.K.2    Mefford, H.C.3    Argonza, R.H.4    Morrow, J.E.5    Hull, J.6    Dann, J.L.7    King, M.C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.